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一名患有嵌合型18号环状染色体的智障女性的产前诊断

Prenatal diagnosis in a mentally retarded woman with mosaic ring chromosome 18.

作者信息

Bagherizadeh Eiman, Behjati Farkhondeh, Saberi Seyed Hoseinali, Shafeghati Yousef

机构信息

Sarem Cell Research Center, Sarem Hospital, Tehran, Iran.

出版信息

Indian J Hum Genet. 2011 May;17(2):111-3. doi: 10.4103/0971-6866.86201.

Abstract

We present a pregnant woman with mental retardation and mosaic for ring 18 referred for prenatal diagnosis. Major clinical features included short stature with clinodactyly in feet, foot deformity and club feet, hypotonia, kyphosis, and absence of breast development, low set ears, high arched palate, dental decay and speech disorder. Prenatal diagnosis was carried. Using amniocentesis. The fetus had a normal karyotype described as 46,XX. The fetus was evaluated for clinical features after delivery; she was healthy with no abnormal clinical characterizations.

摘要

我们报告了一名患有智力障碍且为18号环状染色体嵌合体的孕妇,前来进行产前诊断。主要临床特征包括身材矮小、足部第5指(趾)内弯、足部畸形和马蹄内翻足、肌张力减退、脊柱后凸、乳房未发育、低位耳、高腭弓、龋齿和言语障碍。通过羊膜穿刺术进行了产前诊断。胎儿的核型正常,为46,XX。胎儿出生后对其临床特征进行了评估;她很健康,没有异常的临床表现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6899/3214314/0d4766bed782/IJHG-17-111-g001.jpg

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